Related Experiment Videos
The MR evaluation of pachygyria and associated syndromes
S E Byrd1, R E Osborn, M A Radkowski
1Department of Radiology, Children's Memorial Hospital, Northwestern University Medical School, Chicago, IL.
Insights
Pachygyria, a brain malformation, can occur alone or with lissencephaly. Magnetic resonance (MR) imaging helps differentiate these conditions, impacting symptom severity and prognosis in children.
Area of Science:
- Neurology
- Neuroradiology
- Developmental Neuroscience
Background:
- Pachygyria is a congenital brain malformation characterized by thickened, simplified gyri.
- Differentiating pachygyria from other cortical malformations like lissencephaly and polymicrogyria is crucial for clinical management.
- Magnetic resonance (MR) imaging is a key diagnostic tool for evaluating brain development abnormalities.
Purpose of the Study:
- To analyze magnetic resonance (MR) findings in children with pachygyria.
- To correlate MR findings with clinical symptoms, disease course, and autopsy data.
- To differentiate isolated pachygyria from lissencephaly and polymicrogyria based on imaging characteristics.
Main Methods:
- Retrospective study of 40 pediatric patients with pachygyria.
- Analysis of MR brain scans for all participants.
- Correlation of imaging findings with clinical data and autopsy results in a subset of patients.
Main Results:
- Pachygyria can be an isolated finding without lissencephaly, characterized by normal opercularization and focal/diffuse pachygyria on MR.
- Children with isolated pachygyria exhibit milder symptoms and longer survival compared to those with lissencephaly.
- Lissencephaly shows abnormal opercularization with agyria or mixed agyria/pachygyria on MR.
- Polymicrogyria can mimic pachygyria on MR, presenting a 'nubby' gyral surface appearance.
Conclusions:
- MR imaging is valuable in distinguishing isolated pachygyria from lissencephaly and polymicrogyria.
- Distinct MR imaging patterns correlate with specific diagnoses and clinical outcomes.
- Accurate radiological diagnosis impacts prognosis and management strategies for pediatric cortical malformations.
Abstract:
A retrospective study of 40 children with some form of pachygyria was performed at the Children's Memorial Hospital in Chicago. All 40 children had MR brain scans. We analyzed the MR findings, and correlated these findings with the clinical symptoms and course in all the children. We have autopsy findings in 15% these children. Based on our clinical, MR and autopsy findings, in conjunction with the medical literature, we found the following: (1) Pachygyria can occur as an isolated entity without an association with lissencephaly. The MR findings in these children consisted of a brain that demonstrated normal opercularization with either focal or diffuse areas of pachygyria without areas of agyria. These children live longer and have less severity of symptoms than the children with lissencephaly. (2) The MR findings in children with lissencephaly consisted of a brain that demonstrated abnormal opercularization with areas of total agyria or areas of agyria with pachygyria. (3) The MR findings in 25% of our children with polymicrogyria simulated pachygyria. The MR findings of the brain in these children consisted of a 'nubby' appearance to the outer surface of these abnormal gyri which resembled pachygyria but on histologic exam was polymicrogyria.